Results 91 to 100 of about 5,787 (168)

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome. [PDF]

Children (Basel)
Cieślińska K, Karbowska K, Zaborowicz K, Biedziak B.   +3 more
europepmc   +1 more source

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. [PDF]

Mol Genet Genomic Med
Li YF, Zhang SH, Zhen L, Zhang LZ.
europepmc   +1 more source

Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound. [PDF]

Cureus
Abang Abdullah ZH, Mohd Alauddin M, Mohamad S, Abang Abdullah AF, Mohd Jamil AA.   +4 more
europepmc   +1 more source

Ophthalmologic Findings in an Induced Model of Holoprosencephaly in Zebrafish. [PDF]

J Comp Neurol
Bulk J, Kyrychenko V, Heermann S.
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Novel variants in <i>STAG2</i> and <i>PKD1</i> associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review. [PDF]

Exp Ther Med
Yang Q, Zhang Q, Yi S, Zhou X, Ruan Y, Zhang S, Yi S, Zhang Q, Qin Z, Luo J.   +9 more
europepmc   +1 more source

Sublingual Administration of Desmopressin Oral Disintegrating Tablet in a Neonate With Central Diabetes Insipidus. [PDF]

Cureus
Watanabe D, Yagasaki H, Tsukahara M, Narusawa H, Inukai T.   +4 more
europepmc   +1 more source

Holoprosencephaly [PDF]

, 2019
openaire   +1 more source

The law on voluntary termination of pregnancy in Argentina: impact on the epidemiological situation of congenital anomalies and prenatal diagnostic health services. [PDF]

J Community Genet
Barbero P, Brun P, Groisman B, Bidondo MP, Aiello H, Trotta M, Liascovich R.   +6 more
europepmc   +1 more source

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies. [PDF]

Int J Mol Sci
Efimova I, Mukhina A, Markova Z, Mordanov S, Soprunova I, Pershin D, Balinova N, Petrusenko Y, Meleshko D, Zinchenko R, Shilova N, Voronin S, Shcherbina A, Kutsev S, Marakhonov A.   +14 more
europepmc   +1 more source